Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome

Meckel syndrome (MKS) is a pre‐ or perinatal multisystemic ciliopathic lethal disorder with an autosomal recessive mode of inheritance. Meckel syndrome is usually manifested with meningo‐occipital encephalocele, polycystic kidney dysplasia, postaxial polydactyly and hepatobiliary ductal plate malfor...

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Detalles Bibliográficos
Autores principales: Zhang, Rui, Chen, Shaoyun, Han, Peng, Chen, Fangfang, Kuang, Shan, Meng, Zhuo, Liu, Junnian, Sun, Ruliang, Wang, Zhiwei, He, Xiaohong, Li, Yong, Guan, Yuanning, Yue, Zhengfang, Li, Chen, Kumar Dey, Subrata, Zhu, Yuanfang, Banerjee, Santasree
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6991682/
https://www.ncbi.nlm.nih.gov/pubmed/31840411
http://dx.doi.org/10.1111/jcmm.14887

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